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Julia Sala Coromina

Institutions of which they are part

Research technician
Pediatric Neurology
Vall Hebron Institut de Recerca

Julia Sala Coromina

Institutions of which they are part

Research technician
Pediatric Neurology
Vall Hebron Institut de Recerca

Projects

Neurologia infantil

IP: Alfons Macaya Ruíz
Collaborators: Laia Ventura i Expósito, Belen Perez Dueñas, Laura Costa Comellas, Francina Munell Casadesus, Anna Marcé Grau, Miquel Raspall Chaure, Mireia Del Toro Riera, Julia Sala Coromina, Ana Felipe Rucián, Neurologia infantil, David Gómez Andrés, Amaia Lasa Aranzasti, Lucy Dougherty de Miguel
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 0.01
Reference: 2021 SGR 01171
Duration: 01/01/2022 - 30/06/2025

Evaluation of NGS candidate genes causality in developmental epileptic encephalopathiea

IP: Alfons Macaya Ruíz
Collaborators: Anna Marcé Grau, Miquel Raspall Chaure, Mireia Del Toro Riera, Julia Sala Coromina, Ana Felipe Rucián
Funding agency: Instituto de Salud Carlos III
Funding: 196020
Reference: PI20/01803
Duration: 01/01/2021 - 31/12/2023

Related news

The donation will enable further characterisation of patients with this rare disease, the identification of new biomarkers and the exploration of innovative therapies.

The clinical trial, which also involved Vall d’Hebron, shows that the new therapy improves survival by 86% in patients with thymidine kinase 2 deficiency (TK2d).

The ClinPrior algorithm achieved a positive diagnosis rate of 70% in two minority diseases of neurodegenerative origin, which represents double the number of cases that are diagnosed with current tools.

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